Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys)

Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys)

Heterozygous insulin receptor (INSR) mutations cause type A insulin resistance (IR), associated with a phenotype of IR; hyperandrogenism, oligomenorrhoea and acanthosis nigricans in the absence of obesity or lipoatrophy. The phenotype is variable, ranging from neonatal hyperinsulinaemic hypoglycaemi...

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Bibliographic Details
Main Authors: Emma L Prehn, Mairéad Crowley, David Fennell, Brendan T Kinsley, Kevin Colclough, Maria M Byrne
Format: Article
Language:English
Published: Bioscientifica 2025-02-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Subjects:
diabetes
metabolism
insr mutation
pregnancy
hypoglycaemia
Online Access:https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0087.xml
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